Canonical Allele Identifier: CA2614196957
Gene: PYGM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64753389del , CM000673.2:g.64753389del GRCh38
NC_000011.9:g.64520861del , CM000673.1:g.64520861del GRCh37
NC_000011.8:g.64277437del NCBI36
NG_013018.1:g.12327del

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1403+130del MANE Select ENSP00000164139.3:n.1403+130del
ENST00000164139.3:c.1403+130del ENSP00000164139.3:n.1403+130del
ENST00000377432.7:c.1139+130del ENSP00000366650.3:n.1139+130del
NM_001164716.1:c.1139+130del NP_001158188.1:n.1139+130del
NM_005609.2:c.1403+130del NP_005600.1:n.1403+130del
NM_005609.3:c.1403+130del NP_005600.1:n.1403+130del
NM_005609.4:c.1403+130del MANE Select NP_005600.1:n.1403+130del